Canonical Allele Identifier: CA1537300842

Gene: PDZD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000344_32000348delinsCCACA , CM000667.2:g.32000344_32000348delinsCCACA	GRCh38
NC_000005.9:g.32000450_32000454delinsCCACA , CM000667.1:g.32000450_32000454delinsCCACA	GRCh37
NC_000005.8:g.32036207_32036211delinsCCACA	NCBI36
NG_033962.1:g.206421_206425delinsCCACA
NG_033962.2:g.365935_365939delinsCCACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000438447.2:c.1254+73_1254+77delinsCCACA MANE Select	ENSP00000402033.1:n.1254+73_1254+77delins...
ENST00000438447.1:c.1254+73_1254+77delinsCCACA	ENSP00000402033.1:n.1254+73_1254+77delins...
ENST00000502489.5:n.1010+73_1010+77delinsCCACA
NM_178140.2:c.1254+73_1254+77delinsCCACA	NP_835260.2:n.1254+73_1254+77delinsCCACA
XM_005248269.3:c.1254+73_1254+77delinsCCACA	XP_005248326.1:n.1254+73_1254+77delinsCCA...
XM_005248270.3:c.1254+73_1254+77delinsCCACA	XP_005248327.1:n.1254+73_1254+77delinsCCA...
XM_005248271.1:c.732+73_732+77delinsCCACA	XP_005248328.1:n.732+73_732+77delinsCCACA...
XM_005248272.3:c.732+73_732+77delinsCCACA	XP_005248329.1:n.732+73_732+77delinsCCACA...
XM_006714460.2:c.261+73_261+77delinsCCACA	XP_006714523.1:n.261+73_261+77delinsCCACA...
XM_011513992.1:c.1254+73_1254+77delinsCCACA	XP_011512294.1:n.1254+73_1254+77delinsCCA...
XM_011513993.1:c.1254+73_1254+77delinsCCACA	XP_011512295.1:n.1254+73_1254+77delinsCCA...
XM_011513994.1:c.1254+73_1254+77delinsCCACA	XP_011512296.1:n.1254+73_1254+77delinsCCA...
XM_011513995.1:c.1254+73_1254+77delinsCCACA	XP_011512297.1:n.1254+73_1254+77delinsCCA...
XM_011513996.1:c.979-9986_979-9982delinsCCACA	XP_011512298.1:n.979-9986_979-9982delinsC...
XM_011513997.1:c.1254+73_1254+77delinsCCACA	XP_011512299.1:n.1254+73_1254+77delinsCCA...
NM_178140.3:c.1254+73_1254+77delinsCCACA	NP_835260.2:n.1254+73_1254+77delinsCCACA
XM_005248269.4:c.1254+73_1254+77delinsCCACA	XP_005248326.1:n.1254+73_1254+77delinsCCA...
XM_005248272.4:c.732+73_732+77delinsCCACA	XP_005248329.1:n.732+73_732+77delinsCCACA...
XM_011513992.2:c.1254+73_1254+77delinsCCACA	XP_011512294.1:n.1254+73_1254+77delinsCCA...
XM_011513993.2:c.1254+73_1254+77delinsCCACA	XP_011512295.1:n.1254+73_1254+77delinsCCA...
XM_011513994.2:c.1254+73_1254+77delinsCCACA	XP_011512296.1:n.1254+73_1254+77delinsCCA...
XM_011513995.2:c.1254+73_1254+77delinsCCACA	XP_011512297.1:n.1254+73_1254+77delinsCCA...
XM_011513996.2:c.979-9986_979-9982delinsCCACA	XP_011512298.1:n.979-9986_979-9982delinsC...
XM_017009245.1:c.457-9986_457-9982delinsCCACA	XP_016864734.1:n.457-9986_457-9982delinsC...
XM_017009246.1:c.261+73_261+77delinsCCACA	XP_016864735.1:n.261+73_261+77delinsCCACA...
NM_178140.4:c.1254+73_1254+77delinsCCACA MANE Select	NP_835260.2:n.1254+73_1254+77delinsCCACA